Friday, August 24, 2012

Not Taybi-Linder!

Well I have been waiting for more before posting, but will start with what I have.
I learned a few weeks ago that Ambrose does not have Taybi-Linder Syndrome and instead has something called Congenital Disorders of Glycosylation or CDG.  There are many types of CDG and we are waiting to find out which one.  This is mind blowing and exciting and scary.  I am dying to get the exact diagnosis.

The way we got here is through the genetic study in Canada.  The gene that causes Taybi-Linder syndrome had been discovered.  We were asked to participate in a research study about this. (DHMC had stored cord blood from both of my children.)  They were found to not have that gene.  However, it was believed so strongly that they had this syndrome that they wanted to look more indepth to see if they could find another gene that could cause this syndrome.  It was then that I was told that there were 2 other families who had 2 children affected by this syndrome who also tested negative.  Unfortunately they had all passed away.  This is how I met my dear friend Jenn in Canada.
Then I was contacted to get permission to draw blood from my dear boy to do another test.  The results showed that he had two abnormal genes which relate to CDG.  I am told that this means this IS the diagnosis.  They asked for DNA samples (cheek swabs) from my husband and I to see if one of the gene changes comes from each of us.  We just sent those in a few days ago.  They are doing a sanger series (or something like that) on Ambrose's genes.  I am told that this is an exciting discovery for them.  There was a handwritten note on the DNA kits thanking us and saying "you don't know what this means to us."

For the last nine years of my life, my children had this exceedingly rare, FATAL syndrome.  No one knew anything about it or seemed interested.  I had not gotten to connect with other parents and at times wondered if they were the only ones in the world to have it.  I was haunted by knowing that the longest surviving child to have it only lived to six.  A lengthy article was published in the American Journal of Medical Genetics earlier this year about the neurological changes in Taybi-Linder syndrome based on Sophia and Ambrose.  (Finally someone was interested thanks to a medical student at Dartmouth.)  If you Google "Taybi-Lindre Syndrome" it is the first item, then a few lines down is Ambrose's trach kids profile, then further down are "images for Taybi-Linder syndrome" - all pictures of my children.  I clicked the side bar for images and every picture I ever posted to this blog are there.  That kind of freaked me out.  There were some other kids, but when I clicked on them I saw they were just kids who had profiles on the trach kids website, and must have gotten pulled because Ambrose and Sophia are on there and Taybi-Linder is mentioned.  Oops.

Now on to CDG.  There is not an easy way to explain it, nor do I feel I understand it well.  It is a neurometabolic disorder, having to do with a malfunction on the cellular level.  Unfortunately this can affect every organ or tissue in the body potentially.  There are at least 50 different types, many of which have only been identified in a few individuals.  It is believed that there are probably hundreds of types.  It is an "inborn error of metabolism".

Glycosylation is a process by which all human cells convert sugars into long chains and attach them to proteins.  These are called glycoproteins and are required for normal growth and function of all tissues and organs.    This is acomplicated process involving hundreds of steps and specialized enzymes that help along the way.  In CDG, one of these enzymes malfunctions.  The impact on the body depends on which enzyme is involved.

Here is a link to more information about this disorder if you are interested:

I could not believe this at first, since Sophia's and Ambrose's disorder seems clearly to be a skeletal dysplasia.  They were put into the category of MOPD, of which Taybi-Linder is a subtype, because they had microcephaly, along with dwarfism.  The more I look (AND THAT IS THE MOST WONDERFUL THING: THERE IS LOTS OF INFORMATION.  PEOPLE ARE RESEARCHING THIS, WRITING ARTICLES, THERE ARE TREATMENTS FOR A FEW TYPES, THERE ARE SUPPORT GROUPS, EVEN FACEBOOK PAGES. There are about 1000 people worldwide.  That's huge compared to 32 since 1968!) I find that skeletal dysplasia and skeletal abnormalities can be caused by some CDGs.  I even found an article specifically addressing that, which concluded by saying that CDG should be considered as a diagnosis in any unusual skeletal dysplasia.  Wow!

I have seen nearly all of Sophia's and Ambrose's issues listed amongst the many different types that I have read about (which is only a fraction of the known types I'm sure) but none have listed all and all have mentioned things they do not have.  I saw little mention of respiratory issues, which have always been my children's most serious concern.  I saw no mention of trachs or unusual anatomy of the trachea.  Perhaps they have an undiscovered type.  That would figure.  But perhaps knowing the cause of it will make a difference.

I am hopeful since there is so much info and seeing that there are actually adults with this disorder, but nervous, as there are also types with short life expectancies and new things for me to worry about.  This  is why I am dying to find out the actual diagnosis.

 Ambrose helping make salsa

 Olympic fever
 Ambrose's gold medals
London 2012 and
Beijing 2008